Canonical Allele Identifier: CA5505062
Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 1533016
ClinVar RCV Id: RCV002102229
dbSNP Id: rs778824364
ExAC: 10:55582133 AAGG / A
gnomAD v2: 10-55582133-AAGG-A
gnomAD v3: 10-53822373-AAGG-A
gnomAD v4: 10-53822373-AAGG-A
MyVariant Identifiers: chr10:g.55582134_55582136del (hg19) chr10:g.53822375_53822377del (hg38) chr10:g.53822374_53822376del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53822379_53822381del , CM000672.2:g.53822379_53822381del GRCh38
NC_000010.10:g.55582139_55582141del , CM000672.1:g.55582139_55582141del GRCh37
NC_000010.9:g.55252145_55252147del NCBI36
NG_009191.2:g.983916_983918del
NG_009191.3:g.1811807_1811809del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613657.6:c.4409+2760_4409+2762del ENSP00000482794.1:n.4409+2760_4409+2762del
ENST00000320301.11:c.5350_5352del MANE Plus Clinical ENSP00000322604.6:p.Pro1784del
ENST00000395445.6:c.4388+5017_4388+5019del ENSP00000378832.2:n.4388+5017_4388+5019del
ENST00000613657.5:c.4409+2760_4409+2762del ENSP00000482794.1:n.4409+2760_4409+2762del
ENST00000642496.1:c.3227-2146_3227-2144del
ENST00000644397.2:c.4368-2146_4368-2144del MANE Select ENSP00000495195.1:n.4368-2146_4368-2144del
ENST00000320301.10:c.5350_5352del ENSP00000322604.6:p.Pro1784del
ENST00000361849.7:c.5356_5358del ENSP00000354950.3:p.Pro1786del
ENST00000373956.7:c.*3305_*3307del ENSP00000363067.4:n.*3305_*3307del
ENST00000373957.7:c.5371_5373del ENSP00000363068.4:p.Pro1791del
ENST00000373965.6:c.4373+2760_4373+2762del ENSP00000363076.3:n.4373+2760_4373+2762del
ENST00000395430.5:c.5341_5343del ENSP00000378818.1:p.Pro1781del
ENST00000395432.6:c.5230_5232del ENSP00000378820.2:p.Pro1744del
ENST00000395433.5:c.5281_5283del ENSP00000378821.1:p.Pro1761del
ENST00000395438.5:c.4371+5016_4371+5018del ENSP00000378826.2:n.4371+5016_4371+5018del
ENST00000395440.5:c.1306-12830_1306-12828del ENSP00000378827.1:n.1306-12830_1306-12828del
ENST00000395442.5:c.1099-12830_1099-12828del ENSP00000378829.1:n.1099-12830_1099-12828del
ENST00000395445.5:c.4388+5017_4388+5019del ENSP00000378832.2:n.4388+5017_4388+5019del
ENST00000395446.5:c.2092-12830_2092-12828del ENSP00000378833.1:n.2092-12830_2092-12828del
ENST00000409834.5:c.3206+2760_3206+2762del ENSP00000386693.1:n.3206+2760_3206+2762del
ENST00000414367.5:c.*447+5017_*447+5019del ENSP00000412531.1:n.*447+5017_*447+5019del
ENST00000414778.5:c.4370+5017_4370+5019del ENSP00000410304.2:n.4370+5017_4370+5019del
ENST00000437009.5:c.5143_5145del ENSP00000412628.2:p.Pro1715del
ENST00000448885.5:c.*3311_*3313del ENSP00000412320.1:n.*3311_*3313del
ENST00000463095.2:n.2369_2371del
ENST00000495484.5:c.462-4363_462-4361del ENSP00000480780.1:n.462-4363_462-4361del
ENST00000612394.4:c.4406+5017_4406+5019del ENSP00000482921.1:n.4406+5017_4406+5019del
ENST00000613657.4:c.4409+2760_4409+2762del ENSP00000482794.1:n.4409+2760_4409+2762del
ENST00000614895.4:c.4385+5017_4385+5019del ENSP00000478512.1:n.4385+5017_4385+5019del
ENST00000616114.4:c.4367+5017_4367+5019del ENSP00000483745.1:n.4367+5017_4367+5019del
ENST00000617051.4:c.5377_5379del ENSP00000484703.1:p.Pro1793del
ENST00000617271.4:c.4373+2760_4373+2762del ENSP00000478076.1:n.4373+2760_4373+2762del
ENST00000618301.4:c.594-4363_594-4361del ENSP00000482780.1:n.594-4363_594-4361del
ENST00000621708.4:c.4388+2760_4388+2762del ENSP00000484454.1:n.4388+2760_4388+2762del
ENST00000622048.4:c.5149_5151del ENSP00000482329.1:p.Pro1717del
NM_001142763.1:c.5371_5373del NP_001136235.1:p.Pro1791del
NM_001142764.1:c.5356_5358del NP_001136236.1:p.Pro1786del
NM_001142765.1:c.5143_5145del NP_001136237.1:p.Pro1715del
NM_001142766.1:c.5341_5343del NP_001136238.1:p.Pro1781del
NM_001142767.1:c.5230_5232del NP_001136239.1:p.Pro1744del
NM_001142768.1:c.5290_5292del NP_001136240.1:p.Pro1764del
NM_001142769.1:c.4409+2760_4409+2762del NP_001136241.1:n.4409+2760_4409+2762del
NM_001142770.1:c.4373+2760_4373+2762del NP_001136242.1:n.4373+2760_4373+2762del
NM_001142771.1:c.4388+2760_4388+2762del NP_001136243.1:n.4388+2760_4388+2762del
NM_001142772.1:c.4373+2760_4373+2762del NP_001136244.1:n.4373+2760_4373+2762del
NM_001142773.1:c.5281_5283del NP_001136245.1:p.Pro1761del
NM_033056.3:c.5350_5352del NP_149045.3:p.Pro1784del
NM_001142769.2:c.4409+2760_4409+2762del NP_001136241.1:n.4409+2760_4409+2762del
NM_001142770.2:c.4373+2760_4373+2762del NP_001136242.1:n.4373+2760_4373+2762del
NM_001354404.1:c.5284_5286del NP_001341333.1:p.Pro1762del
NM_001354411.1:c.4388+5017_4388+5019del NP_001341340.1:n.4388+5017_4388+5019del
NM_001354420.1:c.4367+5017_4367+5019del NP_001341349.1:n.4367+5017_4367+5019del
NM_001354429.1:c.4368-4363_4368-4361del NP_001341358.1:n.4368-4363_4368-4361del
XM_017016573.2:c.4388+2760_4388+2762del XP_016872062.1:n.4388+2760_4388+2762del
XR_001747192.2:n.6363_6365del
XR_001747193.2:n.6354_6356del
NM_001142763.2:c.5371_5373del NP_001136235.1:p.Pro1791del
NM_001142764.2:c.5356_5358del NP_001136236.1:p.Pro1786del
NM_001142765.2:c.5143_5145del NP_001136237.1:p.Pro1715del
NM_001142766.2:c.5341_5343del NP_001136238.1:p.Pro1781del
NM_001142768.2:c.5290_5292del NP_001136240.1:p.Pro1764del
NM_001142769.3:c.4409+2760_4409+2762del NP_001136241.1:n.4409+2760_4409+2762del
NM_001142770.3:c.4373+2760_4373+2762del NP_001136242.1:n.4373+2760_4373+2762del
NM_001142771.2:c.4388+2760_4388+2762del NP_001136243.1:n.4388+2760_4388+2762del
NM_001142772.2:c.4373+2760_4373+2762del NP_001136244.1:n.4373+2760_4373+2762del
NM_001142773.2:c.5281_5283del NP_001136245.1:p.Pro1761del
NM_001354411.2:c.4388+5017_4388+5019del NP_001341340.1:n.4388+5017_4388+5019del
NM_001354420.2:c.4367+5017_4367+5019del NP_001341349.1:n.4367+5017_4367+5019del
NM_001354429.2:c.4368-4363_4368-4361del NP_001341358.1:n.4368-4363_4368-4361del
NM_033056.4:c.5350_5352del MANE Plus Clinical NP_149045.3:p.Pro1784del
NM_001142767.2:c.5230_5232del NP_001136239.1:p.Pro1744del
NM_001354404.2:c.5284_5286del NP_001341333.1:p.Pro1762del
NM_001384140.1:c.4368-2146_4368-2144del MANE Select NP_001371069.1:n.4368-2146_4368-2144del
Search 100 bp 5'
Search 100 bp 3'